DermKnowledgeBASE: Zimmermann laband Syndrome

Zimmermann laband Syndrome

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The text is the summary of recent articles on Zimmermann laband Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.


Both Generalized and focal tonic-clonic seizures were observed [1]. We excluded conditions with a single affected patient reported, supernumerary Teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal Teeth, which can involve premature Eruption of a normal tooth [2]. Since, the cause of supernumerary Teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary Teeth in a single patient, or locations outside of the premaxilla [3]. TMBTS is characterized by intellectual disability (ID), epilepsy, dysmorphic facial features, broad thumbs and great toes with absent/hypoplastic nails [4]. Most patients are sporadic, although familial aggregation is also observed with different inheritance patterns [5].

An Autosomal Dominant mutation with high Mutation rate and rare instances of germinal mosaicism seems the most likely Inheritance pattern [6]. Early presentation of Zimmermann-Laband syndrome in a Newborn has rarely been described [7]. Clinical syndromic presentation includes Zimmermann-Laband syndrome, Ramon syndrome, Rutherford syndrome, cowden syndrome, Cross syndrome, Göhlich-Ratmann syndrome, Avani syndrome, and i-cell disease [8]. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by Gingival fibromatosis, bulbous soft nose, thick floppy Ears, Nail Dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional Mental Retardation [9]. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial Hearing Loss was reported in some patients [10].

The syndromic characteristics of Zimmermann-Laband syndrome are highly variable and complicated [11]. This may occur in combination with Nail and/or digital anomalies, as in Zimmermann-Laband syndrome, and the broader phenotypes of the Anavi, Göhlich-Ratmann and Ramon syndromes [12]. Southern hybridization analysis and multiplex ligation-dependent probe amplification (MLPA) did not detect submicroscopic deletion or duplication in either CACNA2D3 or WNT5A in ZLS-affected individuals [13]. In rare cases, it can be associated with symptoms sugges-ting a syndromic diagnosis such as Zimmermann Laband syndrome [14]. The ultrastrucutral Morphology as has not previously been described in the literature [15].

Most Children with this disorder have Generalized Hypertrichosis, large gingivae, and hypoplasia of the fingernails and toenails [16]. We report a male Infant who exhibited typical features of Zimmermann-Laband syndrome with an unusual histopathologic finding [17]. To the best of our knowledge, this is the first report of early developmental cataracts in association with the Zimmermann-Laband syndrome [18]. Other more variable features include hyperextensibility of Joints, hepatosplenomegaly, mild hirsutism, and mental retardation [19]. Our data provide additional support to the assumption that ZLS follows Autosomal Dominant Inheritance [20].

Some of these findings are suggestive of a storage disorder, but no biochemical defect has been identified [21]. High risk for epilepsy and oligophrenia is associated if hypertrichosis is present [22].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ,

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